Canonical Allele Identifier: CA382274796
Gene: CASP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105007088A>G , CM000673.2:g.105007088A>G GRCh38
NC_000011.9:g.104877815A>G , CM000673.1:g.104877815A>G GRCh37
NC_000011.8:g.104383025A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260315.8:c.428T>C MANE Select ENSP00000260315.3:p.Val143Ala
ENST00000260315.7:c.428T>C ENSP00000260315.3:p.Val143Ala
ENST00000393141.6:c.467T>C ENSP00000376849.2:p.Val156Ala
ENST00000418434.5:c.8-3705T>C ENSP00000398130.1:n.8-3705T>C
ENST00000444749.6:c.254T>C ENSP00000388365.2:p.Val85Ala
ENST00000456094.1:c.380T>C ENSP00000415241.1:p.Val127Ala
ENST00000456200.5:c.254T>C ENSP00000408455.1:p.Val85Ala
ENST00000526056.5:c.467T>C ENSP00000436877.1:p.Val156Ala
ENST00000531367.5:c.8-3705T>C ENSP00000434471.1:n.8-3705T>C
NM_001136109.1:c.254T>C NP_001129581.1:p.Val85Ala
NM_001136110.1:c.8-3705T>C NP_001129582.1:n.8-3705T>C
NM_001136112.1:c.467T>C NP_001129584.1:p.Val156Ala
NM_004347.3:c.428T>C NP_004338.3:p.Val143Ala
NR_024239.1:n.286T>C
NR_036562.1:n.40-4887T>C
XM_011543020.1:c.181+1719T>C XP_011541322.1:n.181+1719T>C
XM_011543021.1:c.428T>C XP_011541323.1:p.Val143Ala
NM_001136109.2:c.254T>C NP_001129581.1:p.Val85Ala
NM_001136110.2:c.8-3705T>C NP_001129582.1:n.8-3705T>C
NM_001136112.2:c.467T>C NP_001129584.1:p.Val156Ala
NM_004347.4:c.428T>C NP_004338.3:p.Val143Ala
NR_024239.2:n.286T>C
NR_036562.2:n.40-4887T>C
XM_011543021.2:c.428T>C XP_011541323.1:p.Val143Ala
NM_004347.5:c.428T>C MANE Select NP_004338.3:p.Val143Ala
NM_001136109.3:c.254T>C NP_001129581.1:p.Val85Ala
NM_001136110.3:c.8-3705T>C NP_001129582.1:n.8-3705T>C
NM_001136112.3:c.467T>C NP_001129584.1:p.Val156Ala
NR_024239.3:n.286T>C
NR_036562.3:n.40-4887T>C